Canonical Allele Identifier: CA367637607

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426027T>C (hg19) ; chr7:g.65961040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961040T>C , CM000669.2:g.65961040T>C	GRCh38
NC_000007.13:g.65426027T>C , CM000669.1:g.65426027T>C	GRCh37
NC_000007.12:g.65063462T>C	NCBI36
NG_016197.1:g.26275A>G
NG_051954.1:g.92942T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1813A>G MANE Select	ENSP00000302728.4:p.Lys605Glu
ENST00000304895.8:c.1813A>G	ENSP00000302728.4:p.Lys605Glu
ENST00000421103.5:c.1375A>G	ENSP00000391390.1:p.Lys459Glu
ENST00000430730.5:c.*1080A>G	ENSP00000411859.1:n.*1080A>G
ENST00000447929.5:c.*1193A>G	ENSP00000411262.1:n.*1193A>G
ENST00000466883.5:n.2203A>G
NM_000181.3:c.1813A>G	NP_000172.2:p.Lys605Glu
NM_001284290.1:c.1375A>G	NP_001271219.1:p.Lys459Glu
NM_001293104.1:c.1243A>G	NP_001280033.1:p.Lys415Glu
NM_001293105.1:c.1156A>G	NP_001280034.1:p.Lys386Glu
NR_120531.1:n.1859A>G
XM_005250297.3:c.1660A>G	XP_005250354.1:p.Lys554Glu
XM_011516113.1:c.1312A>G	XP_011514415.1:p.Lys438Glu
XM_011516114.1:c.1141A>G	XP_011514416.1:p.Lys381Glu
XM_005250297.4:c.1660A>G	XP_005250354.1:p.Lys554Glu
XM_011516114.2:c.1141A>G	XP_011514416.1:p.Lys381Glu
XM_017012091.1:c.1159A>G	XP_016867580.1:p.Lys387Glu
XM_017012092.1:c.1090A>G	XP_016867581.1:p.Lys364Glu
XM_017012093.2:c.988A>G	XP_016867582.1:p.Lys330Glu
XR_001744658.2:n.1620A>G
XR_001744659.2:n.1733A>G
XR_001744660.2:n.1665A>G
XR_001744661.2:n.1580A>G
XR_927461.3:n.1818A>G
NM_000181.4:c.1813A>G MANE Select	NP_000172.2:p.Lys605Glu
NM_001284290.2:c.1375A>G	NP_001271219.1:p.Lys459Glu
NM_001293104.2:c.1243A>G	NP_001280033.1:p.Lys415Glu
NM_001293105.2:c.1156A>G	NP_001280034.1:p.Lys386Glu
NR_120531.2:n.1758A>G